当前位置： SCI文献检索 > INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE期刊下所有文献 > Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.

Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.

Abstract：

PURPOSE:To identify the mutation leading to syndromic choroideremia (CHM) in two families and to define fundus autofluorescence (FAF) in CHM carriers. METHODS:The ophthalmic and clinical phenotype was investigated including FAF, neuropediatric, otorhinolaryngologic, cardiologic, and nephrologic examinations of three male patients (age, 11-46 years) and three female carriers (age, 11-46 years) from two families. Genomic DNA amplification (PCR) of the REP1 gene as well as adjacent loci was used to determine the molecular basis of the phenotype. RESULTS:Analysis of genomic DNA revealed large deletions that asymmetrically flank REP1 in both families, ranging from a minimum size of 6.3 and 8.5 mega base pairs (Mbp) to a maximum size of 9.7 and 14.1 Mbp, respectively. In addition to CHM, patients from these families exhibited mild syndromic features, including mental and motor retardation and low-frequency hearing loss. FAF showed a distinctive pattern characterized by small areas of reduced and increased autofluorescence in all female carriers. CONCLUSIONS:Both CHM families are the first to be described with large deletions that manifest with a mild syndromic phenotype. The location of the deletions indicates that they may allow sublocalization of the syndromic features to the most proximal region of X-linked distal spinal muscular atrophy (DSMAX) and Martin-Probst deafness mental retardation syndrome (MPDMRS). The FAF pattern is specific to CHM carriers and thus will help to identify and differentiate between carriers of other X-linked recessive carrier states such as in X-linked retinitis pigmentosa.

journal_name

Invest Ophthalmol Vis Sci

journal_title

Investigative ophthalmology & visual science

authors

Poloschek CM,Kloeckener-Gruissem B,Hansen LL,Bach M,Berger W

doi

10.1167/iovs.08-2044

subject

Has Abstract

pub_date

2008-09-01 00:00:00

pages

4096-104

issue

9

eissn

0146-0404

issn

1552-5783

pii

iovs.08-2044

journal_volume

49

pub_type

杂志文章

相关文献

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE文献大全
  • Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing.

    abstract：Purpose:The purpose of this study was to investigate the disease-causing mutations for retinitis pigmentosa (RP) patients and function of mutations. Methods:We recruited RP families and sporadic RP patients, and performed whole-exome sequencing (WES) to screen for sequence variations. Subsequently, we investigated the...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.17-22952

    authors： Xiao X,Cao Y,Zhang Z,Xu Y,Zheng Y,Chen LJ,Pang CP,Chen H

    更新日期：2017-12-01 00:00:00

  • The effect of an angiostatic steroid on neovascularization in a rat model of retinopathy of prematurity.

    abstract：PURPOSE:The inhibition of angiogenesis by angiostatic steroids has been demonstrated in a variety of systems, including rabbit and rat cornea. There is considerable interest in the therapeutic potential of this class of compounds for angiogenic ocular conditions such as diabetic retinopathy, macular degeneration, and r...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Penn JS,Rajaratnam VS,Collier RJ,Clark AF

    更新日期：2001-01-01 00:00:00

  • Expression of mRNAs, miRNAs, and lncRNAs in Human Trabecular Meshwork Cells Upon Mechanical Stretch.

    abstract：Purpose:Intraocular pressure (IOP), the primary risk factor for primary open-angle glaucoma, is determined by resistance to aqueous outflow through the trabecular meshwork (TM). IOP homeostasis relies on TM responses to mechanical stretch. To model the effects of elevated IOP on the TM, this study sought to identify co...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.61.5.2

    authors： Youngblood H,Cai J,Drewry MD,Helwa I,Hu E,Liu S,Yu H,Mu H,Hu Y,Perkumas K,Aboobakar IF,Johnson WM,Stamer WD,Liu Y

    更新日期：2020-05-11 00:00:00

  • Mutation- and tissue-specific alterations of RPGR transcripts.

    abstract：PURPOSE:The majority of patients with X chromosome-linked retinitis pigmentosa (XlRP) carry mutations in the RPGR gene. The authors studied whether patients with RPGR mutations show additional splice defects that may interfere with RPGR properties. METHODS:Patient-derived cell lines with RPGR mutations were raised in ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.09-4031

    authors： Schmid F,Glaus E,Cremers FP,Kloeckener-Gruissem B,Berger W,Neidhardt J

    更新日期：2010-03-01 00:00:00

  • Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis.

    abstract：PURPOSE:Late infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder characterized by progressive vision loss. The disease results from mutations in the TPP1 (CLN2) gene. Studies were undertaken to characterize the effects of a TPP1 frameshift mutation on the retina in Dachshunds. METHODS:A litter of f...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.08-1712

    authors： Katz ML,Coates JR,Cooper JJ,O'Brien DP,Jeong M,Narfström K

    更新日期：2008-06-01 00:00:00

  • Anti-retinal antibodies in serum of laser-treated rabbits.

    abstract：PURPOSE:Retinal injuries that affect the photoreceptors and/or the retinal pigment epithelium (RPE) may result in the leakage of retinal proteins into the systemic circulation. This study was designed to determine whether an immune response is elicited after an acute retinal injury resulting in circulating anti-retinal...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.11-7685

    authors： Scott SE,Bouhenni RA,Chomyk AM,Dunmire JJ,Patil J,Nakamura H,Deepak P

    更新日期：2012-04-06 00:00:00

  • Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy.

    abstract：PURPOSE:Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disorder characterized by the failure of peripheral retinal vascularization. The genes FZD4, LRP5, and TSPAN12 are known to be associated with the autosomal inheritance form of FEVR. In this study, we performed mutation screening for FZD4, LRP5, a...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.14-15680

    authors： Seo SH,Yu YS,Park SW,Kim JH,Kim HK,Cho SI,Park H,Lee SJ,Seong MW,Park SS,Kim JY

    更新日期：2015-08-01 00:00:00

  • Selective relocalization and proteasomal downregulation of PKCalpha induced by platelet-activating factor in retinal pigment epithelium.

    abstract：PURPOSE:Protein kinases C (PKCs) are key cell-signaling mediators in retinal physiology and pathophysiology. The cellular localization of PKC isoforms is important in defining their activity and specificity; the present study investigated the modulatory potential of the proinflammatory mediator platelet-activating fact...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.05-0290

    authors： Faghiri Z,Bazan NG

    更新日期：2006-01-01 00:00:00

  • Molecular Mechanisms Underlying the Filtration Bleb-Maintaining Effects of Suberoylanilide Hydroxamic Acid (SAHA).

    abstract：Purpose:Suberoylanilide hydroxamic acid (SAHA) has been shown to support the maintenance of experimental filtration blebs in animal models. This study was performed to investigate the molecular mechanisms underlying the bleb-maintaining effects of SAHA in modulating wound healing activities of conjunctival fibroblasts....

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.16-21403

    authors： Futakuchi A,Inoue T,Fujimoto T,Kuroda U,Inoue-Mochita M,Takahashi E,Ohira S,Tanihara H

    更新日期：2017-04-01 00:00:00

  • Effects of Dorzolamide on Retinal and Choroidal Blood Flow in the DBA/2J Mouse Model of Glaucoma.

    abstract：PURPOSE:To test the hypothesis that acute topical dorzolamide (DZ) decreases intraocular pressure (IOP) and increases retinal and choroidal blood flow in the DBA/2J mouse model of glaucoma. METHODS:Retinal and choroidal blood flow were measured in 4- and 9-month-old DBA/2J mice, and 4-month C57BL/6 (control) mice unde...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.15-18291

    authors： Chandra S,Muir ER,Deo K,Kiel JW,Duong TQ

    更新日期：2016-03-01 00:00:00

  • Sialoglycoproteins of the frog rod outer segment plasma membrane.

    abstract：:Photoreceptors can segregate inner segment proteins from outer segment proteins. It is uncertain whether such a sorting process occurs during disc morphogenesis in rods, thereby resulting in an outer segment plasma membrane which differs compositionally from the discs. In this study, the plasma membranes of intact, pu...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Polans AS,Burton MD

    更新日期：1988-10-01 00:00:00

  • The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.

    abstract：PURPOSE:AIPL1 mutations cause the severe inherited blindness Leber congenital amaurosis (LCA). The similarity of AIPL1 to tetratricopeptide repeat (TPR) cochaperones that interact with the chaperone Hsp90 and the ability of AIPL1 to suppress the aggregation of NUB1 fragments in a chaperone-like manner suggest that AIPL...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.07-1576

    authors： Hidalgo-de-Quintana J,Evans RJ,Cheetham ME,van der Spuy J

    更新日期：2008-07-01 00:00:00

  • Negative electroretinograms in retinitis pigmentosa.

    abstract：PURPOSE:Patients with typical clinical features of retinitis pigmentosa were found to have the atypical electroretinographic finding of a negative waveform to a bright flash in the dark-adapted state. The full-field electroretinogram (ERG) was studied in seven such patients to understand better the pathophysiology. ME...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Cideciyan AV,Jacobson SG

    更新日期：1993-11-01 00:00:00

  • Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.

    abstract：PURPOSE:Orbital magnetic resonance imaging (MRI) was used to investigate the structural basis of motility abnormalities in congenital fibrosis of the extraocular muscles type 3 (CFEOM3), a disorder resulting from missense mutations in TUBB3, which encodes neuron-specific beta-tubulin isotype III. METHODS:Ophthalmic ex...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.10-5438

    authors： Demer JL,Clark RA,Tischfield MA,Engle EC

    更新日期：2010-09-01 00:00:00

  • Uveoscleral aqueous outflow in the rhesus monkey: importance of uveal reabsorption.

    abstract：:The uveal absorption of aqueous humor at two different intraocular pressures was measured in rhesus monkeys by sampling vortex vein blood during anterior chamber perfusion of Ringer's solution containing both fluorescein and 125I albumin. At 20 mm. Hg, an excess of fluorescein equivalent in amount to 0.45 microliter/m...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Pederson JE,Gaasterland DE,MacLellan HM

    更新日期：1977-11-01 00:00:00

  • Rhesus monkey lens as an in vitro model for studying oxidative stress.

    abstract：:Lenses from young rhesus monkeys were incubated in the presence of H2O2 or oxygen radical generating systems to determine their suitability as a model for investigating lenticular oxidative stress. Additionally, direct comparisons were made between the effects found with the monkey lenses and those observed with cultu...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Zigler JS Jr,Lucas VA,Du XY

    更新日期：1989-10-01 00:00:00

  • Assessment of Transepidermal Water Loss From the Ocular Area in Dry Eye Disease.

    abstract：Purpose:To investigate transepidermal water loss (TEWL) from the ocular area in dry eye disease (DED) and evaluate the correlation between ocular TEWL and other DED parameters. Methods:Transepidermal water loss from the ocular area in 56 eyes with DED and 38 healthy eyes was measured using a Tewameter TM300 that was e...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.16-20109

    authors： Jeon HS,Youn SW,Jeon HE,Kim JH,Hyon JY

    更新日期：2016-09-01 00:00:00

  • Optical Coherence Tomography Angiography in the Evaluation of Geographic Atrophy Area Extension.

    abstract：Purpose:To investigate the application of optical coherence tomography angiography (OCT-A) in evaluation of geographic atrophy (GA) secondary to age-related macular degeneration (AMD). Methods:Patients with GA were prospectively enrolled and studied with blue fundus autofluorescence (FAF), en face structural OCT, and ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.17-22508

    authors： Corbelli E,Sacconi R,Rabiolo A,Mercuri S,Carnevali A,Querques L,Bandello F,Querques G

    更新日期：2017-10-01 00:00:00

  • Oxidized low density lipoprotein-induced inhibition of processing of photoreceptor outer segments by RPE.

    abstract：PURPOSE:To examine the effects of oxidized low-density lipoproteins (oxLDL) on phagocytosis and processing of photoreceptor outer segments (OS) by retinal pigment epithelial (RPE) cells. METHODS:Confluent cultures of RPE-J cells were pretreated with oxLDL or LDL, and the effects of such treatment on the processing of ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Hoppe G,Marmorstein AD,Pennock EA,Hoff HF

    更新日期：2001-10-01 00:00:00

  • Tear film, contact lens, and patient factors associated with corneal staining.

    abstract：PURPOSE:The purpose of this study was to examine ocular surface and tear film, contact lens, care solution, medical, and patient-related factors that are associated with corneal staining in contact lens wearers. METHODS:In this cross-sectional/nested case-control study, in addition to the assessment of corneal stainin...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.10-5757

    authors： Nichols JJ,Sinnott LT

    更新日期：2011-02-28 00:00:00

  • A comparison of the laser flare cell meter and fluorophotometry in assessment of the blood-aqueous barrier.

    abstract：PURPOSE:To evaluate and compare the use of the Kowa laser flare cell meter and intravenous anterior chamber fluorophotometry in assessment of the blood-aqueous barrier after cataract surgery. METHOD:Laser flare and cell measurements and fluorophotometry were performed at 1 and 3 months after surgery in 48 eyes of 44 p...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Shah SM,Spalton DJ,Allen RJ,Smith SE

    更新日期：1993-10-01 00:00:00

  • Two types of visual dysfunction in autosomal dominant retinitis pigmentosa.

    abstract：:Visual thresholds and rhodopsin levels were determined in nine subjects with autosomal dominant retinitis pigmentosa. The subjects fell into two groups, corresponding to two subtypes of the disease revealed by two-color, dark-adapted static perimetry. In the first of these subtypes, rod-mediated function was variably ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Kemp CM,Jacobson SG,Faulkner DJ

    更新日期：1988-08-01 00:00:00

  • Insertion of a Pax6 consensus binding site into the alphaA-crystallin promoter acts as a lens epithelial cell enhancer in transgenic mice.

    abstract：PURPOSE:Although the murine alphaA-crystallin promoter is the most commonly used promoter for achieving transgene expression in the developing lens, this promoter directs transgene expression efficiently only in lens fiber cells. The purpose of the present study was to generate promoters capable of directing transgene ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.03-0856

    authors： Zhao H,Yang Y,Rizo CM,Overbeek PA,Robinson ML

    更新日期：2004-06-01 00:00:00

  • Effect of blur adaptation on blur sensitivity and discrimination in emmetropes and myopes.

    abstract：PURPOSE:To determine whether blur adaptation influences blur sensitivity and blur discrimination thresholds in young adult myopes and emmetropes. In addition, to determine whether there is a differential effect of blur adaptation on blur sensitivity and discrimination between refractive error groups. METHODS:Proximal ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.06-0836

    authors： Cufflin MP,Mankowska A,Mallen EA

    更新日期：2007-06-01 00:00:00

  • Impaired epithelial wound healing and EGFR signaling pathways in the corneas of diabetic rats.

    abstract：:PURPOSE. The purpose of the study was to investigate the effects of hyperglycemia on EGFR (epidermal growth factor receptor)-mediated wound response and signal transduction in the corneal epithelium of rats with type I diabetes mellitus (DM). METHODS. Corneal epithelia were removed from streptozotocin (STZ)- and weigh...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.10-5670

    authors： Xu K,Yu FS

    更新日期：2011-05-17 00:00:00

  • Racial Differences in the Association of Anterior Lamina Cribrosa Surface Depth and Glaucoma Severity in the African Descent and Glaucoma Evaluation Study (ADAGES).

    abstract：Purpose:To determine if variation in anterior lamina cribrosa surface depth (ALCSD) differs between glaucoma patients of African (AD) and European descent (ED). Methods:A total of 178 eyes from 123 glaucoma patients in the African Descent and Glaucoma Evaluation Study (ADAGES) and Diagnostic Innovations in Glaucoma St...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.19-26645

    authors： Girkin CA,Fazio MA,Bowd C,Medeiros FA,Weinreb RN,Liebmann JM,Proudfoot J,Zangwill LM,Belghith A

    更新日期：2019-10-01 00:00:00

  • Immunity and immune privilege elicited by cultured retinal pigment epithelial cell transplants.

    abstract：PURPOSE:To determine whether cultured retinal pigment epithelial (RPE) cells implanted in the subconjunctival space induce an immune response against autoantigens and whether an active downregulation is achieved by RPE grafts placed in the anterior chamber and within the subretinal space. METHODS:Cultured RPE cells fr...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Grisanti S,Ishioka M,Kosiewicz M,Jiang LQ

    更新日期：1997-07-01 00:00:00

  • Conjunctival in vivo confocal scanning laser microscopy in patients with Sjögren syndrome.

    abstract：PURPOSE:To demonstrate the conjunctival alterations in patients with Sjögren's (SSDE) and non-Sjögren's syndrome dry eye (NSSDE) using a new generation confocal microscope (HRTII/ RCM; Heidelberg Engineering, Heidelberg, Germany), in a prospective controlled study. METHODS:Twenty-eight right eyes of 28 patients with S...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.08-2722

    authors： Wakamatsu TH,Sato EA,Matsumoto Y,Ibrahim OM,Dogru M,Kaido M,Ishida R,Tsubota K

    更新日期：2010-01-01 00:00:00

  • Colocalization of Galectin-3 With CD147 Is Associated With Increased Gelatinolytic Activity in Ulcerating Human Corneas.

    abstract：Purpose:Galectin-3 is a carbohydrate-binding protein known to promote expression of matrix metalloproteinases, a hallmark of ulceration, through interaction with the extracellular matrix metalloproteinase inducer CD147. The aim of this study was to investigate the distribution of galectin-3 in corneas of patients with ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.17-23196

    authors： Cruzat A,Gonzalez-Andrades M,Mauris J,AbuSamra DB,Chidambaram P,Kenyon KR,Chodosh J,Dohlman CH,Argüeso P

    更新日期：2018-01-01 00:00:00

  • β-Zone parapapillary atrophy and the rate of retinal nerve fiber layer thinning in glaucoma.

    abstract：PURPOSE:To evaluate whether β-zone parapapillary atrophy (PPA) is associated with the rate of retinal nerve fiber layer (RNFL) thickness change as assessed by trend-based analysis using time-domain optical coherence tomography (OCT). METHODS:This retrospective cohort study included 202 glaucomatous eyes that were obse...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.10-6818

    authors： Lee EJ,Kim TW,Weinreb RN,Park KH,Kim SH,Kim DM

    更新日期：2011-06-22 00:00:00